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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RBM8A
RNA binding motif protein 8A
Chromosome 1 Β· 1q21.1
NCBI Gene: 9939Ensembl: ENSG00000265241.9HGNC: HGNC:9905UniProt: A0A023T787
196PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnuclear speckU2-type catalytic step 1 spliceosomecatalytic step 2 spliceosomethrombocytopenia-absent radius syndromeThrombocytopenia - absent radiusgenetic disorderneurodegenerative disease
✦AI Summary

RBM8A encodes an RNA-binding motif protein that serves as a core component of the exon junction complex (EJC), essential for multiple aspects of RNA metabolism 1. The protein forms a heterodimer with MAGOH and is required for pre-mRNA splicing, mRNA export, translation, and nonsense-mediated mRNA decay 1. The RBM8A-MAGOH complex stabilizes the EJC by inhibiting EIF4A3 ATPase activity, trapping the complex onto spliced mRNAs throughout their lifecycle 1. Beyond its canonical EJC functions, RBM8A localizes to centrosomes and is required for proper M-phase progression 2. The protein is clinically significant as compound inheritance of a rare null allele with regulatory SNPs in RBM8A causes thrombocytopenia-absent radius (TAR) syndrome, demonstrating that Y14 insufficiency leads to this congenital malformation disorder 3. RBM8A is overexpressed in multiple cancers including hepatocellular carcinoma and gastric cancer, where it promotes tumor progression by stabilizing oncogenic mRNAs such as EGFR, contributing to chemotherapy resistance 456. In breast cancer, RBM8A is transcriptionally activated by TEAD4 and promotes malignancy by regulating IGF1R and IRS-2 expression through the PI3K/AKT pathway 7.

Sources cited
1
RBM8A is a core EJC component required for mRNA splicing, export, translation and NMD
PMID: 36396768
2
RBM8A localizes to centrosomes and is required for M-phase progression
PMID: 23949737
3
Compound inheritance of RBM8A mutations causes TAR syndrome
PMID: 22366785
4
RBM8A is overexpressed in hepatocellular carcinoma
PMID: 30670676
5
RBM8A promotes gastric cancer progression
PMID: 40613240
6
RBM8A confers oxaliplatin resistance by stabilizing EGFR mRNA
PMID: 41354714
7
RBM8A is transcriptionally activated by TEAD4 and promotes breast cancer via IGF1R/IRS-2
PMID: 39232805
Disease Associationsβ“˜21
thrombocytopenia-absent radius syndromeOpen Targets
0.79Strong
Thrombocytopenia - absent radiusOpen Targets
0.77Strong
genetic disorderOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.31Weak
Global developmental delayOpen Targets
0.27Weak
Abnormal brain morphologyOpen Targets
0.27Weak
Clinodactyly of the 5th fingerOpen Targets
0.27Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.07Suggestive
luminal A breast carcinomaOpen Targets
0.07Suggestive
mesotheliomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
endometrial cancerOpen Targets
0.04Suggestive
malignant pleural mesotheliomaOpen Targets
0.03Suggestive
gastric carcinomaOpen Targets
0.03Suggestive
Thrombocytopenia-absent radius syndromeUniProt
Pathogenic Variants11
NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs)Pathogenic
Radial aplasia-thrombocytopenia syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 70
NM_005105.5(RBM8A):c.-19G>APathogenic
Radial aplasia-thrombocytopenia syndrome
β˜…β˜†β˜†β˜†2022
NM_005105.5(RBM8A):c.67+34G>CPathogenic
Radial aplasia-thrombocytopenia syndrome
β˜…β˜†β˜†β˜†2022
NM_005105.5(RBM8A):c.128-2A>GPathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_005105.5(RBM8A):c.336_342+2delLikely pathogenic
Radial aplasia-thrombocytopenia syndrome
β˜…β˜†β˜†β˜†2019
NM_005105.5(RBM8A):c.*6C>TPathogenic
Radial aplasia-thrombocytopenia syndrome
β˜…β˜†β˜†β˜†
NM_005105.5(RBM8A):c.343-2A>GPathogenic
Radial aplasia-thrombocytopenia syndrome
β˜†β˜†β˜†β˜†2021
NM_005105.5(RBM8A):c.205+3_205+6delPathogenic
Radial aplasia-thrombocytopenia syndrome
β˜†β˜†β˜†β˜†2019
NM_005105.5(RBM8A):c.206-13C>APathogenic
Radial aplasia-thrombocytopenia syndrome
β˜†β˜†β˜†β˜†2019
NM_005105.5(RBM8A):c.-19G>TPathogenic
Radial aplasia-thrombocytopenia syndrome
β˜†β˜†β˜†β˜†2019
NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter)Pathogenic
Radial aplasia-thrombocytopenia syndrome
β˜†β˜†β˜†β˜†2012β†’ Residue 163
View on ClinVar β†—
Related Genes
IPO13Protein interaction100%RBM22Protein interaction100%BCAS2Protein interaction100%PRPF19Protein interaction100%CDC40Protein interaction100%PRPF8Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
32%
Ovary
29%
Liver
28%
Bone Marrow
27%
Heart
26%
Gene Interaction Network
Click a node to explore
RBM8AIPO13RBM22BCAS2PRPF19CDC40PRPF8
PROTEIN STRUCTURE
Preparing viewer…
PDB1P27 Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.55Moderately Constrained
pLIβ“˜
0.94Intolerant
Observed/Expected LoF0.30 [0.18–0.55]
RankingsWhere RBM8A stands among ~20K protein-coding genes
  • #2,164of 20,598
    Most Researched196 Β· top quartile
  • #2,736of 5,498
    Most Pathogenic Variants11
  • #3,483of 17,882
    Most Constrained (LOEUF)0.55 Β· top quartile
Genes detectedRBM8A
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
PMID: 22366785
Nat Genet Β· 2012
1.00
2
Expression and gene regulation network of
PMID: 30670676
Aging (Albany NY) Β· 2019
0.90
3
RBM8A promotes gastric cancer progression by binding with UPF3B to induce BBC3 mRNA degradation.
PMID: 40613240
Int J Mol Med Β· 2025
0.80
4
RNA-binding protein RBM8A (Y14) and MAGOH localize to centrosome in human A549 cells.
PMID: 23949737
Histochem Cell Biol Β· 2014
0.70
5
hsa_circ_0081343 interacts with Rbm8a to inhibit NLRP3-mediated pyroptosis via the PI3K/AKT/HIF-1Ξ± pathways.
PMID: 40267529
Placenta Β· 2025
0.68